Mendelian

genetics and
chromosomes

PREPARED BY: GROUP 7

MEMBERS :
MAR ANGELO JOSEPH B. COBERO
JIMNEL ORASA
JODELYN BOLITO
MICAELA BARIA
ALMEDA RANGASAO
REGINE DELAMARQUEZ
Gregor Johann Mendel
(1822–1884)
He is the responsible for
the Laws governing
Inheritance of Traits.
• He was born on July 22, 1822, to a poor
farming family who lived in a village in
Northern Moravia, which is now part of the
Czech Republic.
• He is “The Father of Genetics”
• He discovered the fundamental Laws of
Inheritance
• He is a botanist, a teacher, and the first
person to lay the mathematical foundation
of the science of genetics, in what came
to be called Mendelis
• m.
• He is a Australian monk
• Developed the laws of inheritance.
• His works not recognized until the of
the 20th Century.
• In 1856 and 1863 he cultivated and
tested some 28, 000 pea plants.
• He found that the plants offspring
retained the traits of the parents.
 WHAT IS GENETICS?
● Genetics relates to the transmission, expression,
and evolution of genes, the molecules that control
the function, development, and ultimate
appearance of individuals.
● The study of heredity and the variation of inherited
characteristics.
● The genetic properties or features of an organism,
characteristic, and etc.
 PARTICULATE INHERITANCE
● Mendel stated that physical
traits are inherited as
“PARTICLES”.
● Mendel did not now that the
“particles” were actually
CHROMOSOMES AND DNA.
 GENETIC TERMINOLOGY

● TRAIT – any characteristics that

can be passed from parent to
offspring.
● HEREDITY – passing the traits
from parent to offspring.
● GENETICS – study of heredity.
 TYPES OF GENETIC
● MONOHYBRID CROSS –CROSSES
cross
involving a single trait. (Ex. Flower
color)
● DIHYBRID CROSS – cross involving
two traits. (Ex. Flower color and plant
height)
● TRIHYBRID CROSS - the cross between
the two individuals of a species for
studying inheritance of three pairs of
factors or alleles belonging to three
 DESIGNER GENES
● ALLELES - Two forms of a gene
(dominant and recessive)
● DOMINANT – stronger of two genes
expressed in the hybrid; represented by a
capital letter (R)
● RECESSIVE – Gene that show up less
often in a cross; represented by a
lowercase letter (r)
 MORE TERMOLOGY
● GENOTYPE – gene
combination for a trait (e.g.
RR, Rr, rr)
● PHENOTYPE – the
physical feature resulting
from a genotype ( e.g red,
white)
 GENOTYPES
● HOMOZYGOUS GENOTYPE –
gene combination involving 2
dominant or 2 recessive genes (e.g,
RR, or rr); also called pure.
● HETEROZYGOUS GENOTYPE –
gene combination of one dominant
and one recessive allele (e.g. Rr);
also called hybrid.
 SEX-LINKED TRAITS
● Traits (genes) located on the sex
chromosomes
Sex chromosomes are X and Y
● XX genotype for females
● XY genotype for males
Many sex- linked traits carried on X
chromosome
 SEX-LINKED TRAITS

● Example: Eye color in fruits

flies
 Sex-linked traits problem
● Example: eye color in fruit flies
(red-eyed male) x (white-eyed female)

REMEMBER: The Y chromosome in males does not

carry traits
RR = red eyed
Rr = red eyed
rr = white eyed
XY = male
XX = female
 LAW OF SEGREGATION
 The law of segregation states that the two alleles
of a single trait will separate randomly, meaning
that there is a 50% either allele will end up in
either gamete. This has to do with 1 gene.
 A gamete receives only one allele from the pair of
alleles proposed by an organism; fertilization
reestablish the double number.
RULES OF SEGREGATION
 PROGENY TESTING

● The simplest way to test the

hypothesis is by progeny testing,
that is, by self-fertilizing F1
individuals to produce a F2
generation
 TEST CROSS
● Method used to determine the genotype of an organism
with a dominant phenotype.
● Another way of test the segregation rule is testcross, that
is, a cross of any organism with a recessive homozygote.
(Another type of cross testing is the backcross, is the
cross of a progeny with an individual that has a parental
genotype. Hence a testcross can often be a backcross.)
 Law of dominance
Mendel's law of dominance states that: “When
parents with pure, contrasting traits are crossed
together, only one form of trait appears in the next
generation. The hybrid offspring will exhibit only
the dominant trait in the phenotype.” Law of
dominance is known as the first law of inheritance.
 Incomplete dominance
occurs when neither trait is truly dominant over the
other. This means that both traits can be expressed
in the same regions, resulting a blending of two
phenotypes.
 Co-dominance
a type of inheritance in which two versions (alleles) of
the same gene are expressed separately to yield
different traits in an individual.
 Fundamental theory of heredity
Mendel found that paired pea traits were
either dominant or recessive. When pure-bred
parent plants were cross-bred, dominant
traits were always seen in the progeny,
whereas recessive traits were hidden until the
first-generation (F1) hybrid plants were left
to self-pollinate.
 Principle of independent assortment
Mendel observed that, when peas with
more than one trait were crossed, the
progeny did not always match the
parents. This is because different traits
are inherited independently – this is the
principle of independent assortment.
 CHROMOSOMES
● What is a chromosome?
 Chromosomes are thread-like structures located inside
the nucleus of animal and plant cells. Each
chromosome is made of protein and a single molecule
of deoxyribonucleic acid (DNA).
 Chromosomes are different sizes, and proteins called
histones allow them to pack up small enough to fit in a
nucleus.
How many chromosomes do humans have?
● Humans should have 23 pairs of chromosomes (46 total).
Chromosomes divide into 22 numbered pairs (autosomes)
and one pair of sex chromosomes (X and Y). You receive
one chromosome from each parent to make a pair.

What is DNA?
● Deoxyribonucleic acid (DNA) is the material that exists in
every cell in your body that holds your genetic code. It
makes up your body’s instruction manual.
 What is DNA made of?
● DNA has a language that it uses to write your instruction
manual (a code). Four chemical bases make up your DNA
language including:
 Adenine (A).
 Cytosine (C).
 Thymine (T).
 Guanine (G).
● What are genes?
● Genes are the building blocks for your body. Some genes
give the instructions to make proteins.
How do I get genes?
● You inherit your genes from your parents. You receive one
copy of a gene from each parent (one from the egg and one
from the sperm). Once you receive a pair, your genes divide
and copy themselves until your body has enough genes to fill
your instruction manual. There are approximately 20,000 to
25,000 genes in your body.
● DNA, genes and chromosomes work together to make you who you are.
Chromosomes carry DNA in cells. DNA is responsible for building and
maintaining your human structure. Genes are segments of your DNA, which
give you physical characteristics that make you unique. Together, your body
has a complete instruction manual that tells your cells how to behave.

What are genetic conditions?

● A genetic condition is a disease caused by a gene that isn’t normal. A genetic
mutation is a gene that didn’t copy correctly during cell division, and it has a
different sequence or shape from other genes in the body. When you have a
genetic mutation, your body can’t develop normal form and function.
● Sometimes you can inherit the genetic mutation from a parent and sometimes
the gene mutates randomly mutates in you, with no history of the mutated
gene or the genetic condition in your family.
● There are thousands of genetic conditions that exist.
What are genetic disorders?
● Genetic disorders occur when a mutation (a
harmful change to a gene, also known as a
pathogenic variant) affects your genes or
when you have the wrong amount of genetic
material. Genes are made of DNA
(deoxyribonucleic acid), which contain
instructions for cell functioning and the
characteristics that make you unique.
Genetic disorders can be:
● Chromosomal: This type affects the structures
that hold your genes/DNA within each cell
(chromosomes). With these conditions, people
are missing or have duplicated chromosome
material.
● Complex (multifactorial): These disorders stem
from a combination of gene mutations and other
factors. They include chemical exposure, diet,
certain medications and tobacco or alcohol use.
● Single-gene (monogenic): This group of
conditions occurs from a single gene mutation.
What are common genetic disorders?
There are many types. They include:
● Chromosomal disorders
 Down syndrome (Trisomy 21).
 FragileX syndrome.
 Klinefelter syndrome.
 Triple-X syndrome.
 Turner syndrome.
 Trisomy 18.
 Trisomy 13.
Multifactorial disorders
 Late-onset Alzheimer’s disease.
 Arthritis.
 Autism spectrum disorder, in most
cases.
 Cancer, in most cases.
 Coronary artery disease.
 Diabetes.
 Migraine headaches.
 Spina bifida.
 Isolated congenital heart defects.
Monogenic disorders
 Cystic fibrosis.
 Deafness that’s present at birth
(congenital).
 Duchenne muscular dystrophy.
 Familial hypercholesterolemia, a type
of high cholesterol disease.
 Hemochromatosis (iron overload).
 Neurofibromatosis type 1 (NF1).
 Sickle cell disease.
 Tay-Sachs disease.
 Are there other types of genetic disorders?
● Genetic disorders may also cause rare diseases. This
group of conditions affects fewer than 200,000 people in
the U.S. According to experts, there may be as many as
7,000 of these diseases.
Rare genetic disorders include:
 AA amyloidosis.
 Adrenoleukodystrophy (ALD).
 Ehlers-Danlos syndrome.
 Mitochondrial diseases.
 Usher syndrome.
 What are the causes of genetic disorders?
● To understand genetic disorder causes, it’s helpful to learn more
about how your genes and DNA work. Most of the DNA in your
genes instructs the body to make proteins. These proteins start
complex cell interactions that help you stay healthy.
● When a mutation occurs, it affects the genes’ protein-making
instructions. There could be missing proteins. Or the ones you
have do not function properly. Environmental factors (also
called mutagens) that could lead to a genetic mutation include:
• Chemical exposure.
• Radiation exposure.
• Smoking.
• UV exposure from the sun.
 What are the symptoms of genetic disorders?
Symptoms vary depending on the type of disorder, organs affected and how
severe it is. You may experience:
 Behavioral changes or disturbances.
 Breathing problems.
 Cognitive deficits, when the brain can’t process information as it should.
 Developmental delays that include challenges with speech or social skills.
 Eating and digestive issues, such as difficulty swallowing or an inability to
process nutrients.
 Limb or facial anomalies, which include missing fingers or a
cleft lip and palate.
 Movement disorders due to muscle stiffness or weakness.
 Neurological issues such as seizures or stroke.
 Poor growth or short stature.
 Vision or hearing loss.
How are genetic disorders identified?
● Genetic counseling to see if genetic testing is appropriate
for you. Lab tests can typically show whether you have
gene mutations responsible for that condition.
● If there’s a family history, DNA testing for genetic disorders
can be an important part of starting a family. Options
include:
● Carrier testing
● Prenatal screening
● Prenatal diagnostic testing
● Newborn screening
What is treatment for genetic disorders like?
● Most genetic disorders do not have a cure.
Some have treatments that may slow disease
progression or lessen their impact on your life.
The type of treatment that’s right for you
depends on the type and severity of the
disease. With others, we may not have
treatment but we can provide medical
surveillance to try to catch complications
early.
 You may need:
 Medications to manage symptoms or chemotherapy to
slow abnormal cell growth.
 Nutrition counseling or dietary supplements to help you get
the nutrients your body needs.
 Physical, occupational or speech therapy to maximize your
abilities.
 Blood transfusion to restore levels of healthy blood cells.
 Surgery to repair abnormal structures or treat
complications.
 Specialized treatments, such as radiation therapy for
cancer.
 Organ transplant, which is a procedure to replace a
nonfunctioning organ with one from a healthy donor.